WRN

WRN RecQ like helicase

Summary

This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]

Known Variants2,776 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5781210638:30,890,867G/C—uncertain significance
rs8860628738:30,890,883G/T—uncertain significance
rs8860628748:30,890,889G/T—uncertain significance
rs8860628758:30,890,930G/C—uncertain significance
rs101120178:30,890,935G/C—likely benign
rs70170698:30,890,948C/G—benign
rs115741558:30,890,961C/A—uncertain significance
rs5451948548:30,891,047C/A—uncertain significance
rs8860628768:30,891,129C/T—uncertain significance
rs115741568:30,891,158C/T—benign
rs8860628778:30,891,186G/A—uncertain significance
rs115741578:30,891,288G/C—benign
rs8676748088:30,891,326G/A—uncertain significance
rs8860628838:30,891,332T/A—uncertain significance
rs115741588:30,891,353G/A—benign
rs8860628848:30,891,357T/G—uncertain significance
rs115741598:30,891,369C/T—uncertain significance
rs115741608:30,891,403C/G—benign
rs8860628858:30,891,414G/A—uncertain significance
rs13708662188:30,891,431G/C—uncertain significance
rs15633141128:30,891,445C/G—uncertain significance
rs47332208:30,900,890A/T——
rs5746805408:30,909,883C/T——
rs70168748:30,915,627G/A—benign
rs115741758:30,915,674A/C—benign
rs3700140198:30,915,927A/G—uncertain significance
rs10240228988:30,915,964A/G—uncertain significance
rs21300004748:30,915,969T/G—uncertain significance
rs7617842218:30,915,975A/G—likely benign
rs2021489888:30,915,979T/C—conflicting classifications of pathogenicity
rs21300005988:30,915,981G/A—likely benign
rs24872660298:30,915,983A/T—uncertain significance
rs21300006578:30,915,984A/G—likely benign
rs24872660738:30,915,987A/C—likely benign
rs7577915808:30,915,988A/G—uncertain significance
rs18123588668:30,915,989C/T—uncertain significance
rs24872660978:30,915,990T/C—likely benign
rs8884684058:30,915,991G/A—uncertain significance
rs12545278828:30,915,992C/T—uncertain significance
rs18123591858:30,915,993A/T—likely benign
rs21300007748:30,915,994C/T—pathogenic
rs12100135208:30,915,995A/C—uncertain significance
rs7562554188:30,915,996G/A—likely benign
rs21300008328:30,915,997C/T—likely pathogenic
rs24872661738:30,915,998A/C—uncertain significance
rs3735032678:30,916,000C/T—uncertain significance
rs10068847288:30,916,001G/A—uncertain significance
rs30874208:30,916,005A/G—likely benign
rs18123604318:30,916,006T/A—uncertain significance
rs12739204838:30,916,010C/T—uncertain significance
rs12336244628:30,916,021A/G—conflicting classifications of pathogenicity
rs15545181798:30,916,022A/T—uncertain significance
rs13688305108:30,916,023T/G—uncertain significance
rs13683078348:30,916,024G/A—uncertain significance
rs24872663558:30,916,026G/T—likely benign
rs18123613558:30,916,029G/T—uncertain significance
rs13323281348:30,916,031A/G—uncertain significance
rs21300012068:30,916,032T/A—uncertain significance
rs13575714878:30,916,034A/G—uncertain significance
rs1505240088:30,916,038A/G—likely benign
rs5509264598:30,916,040G/A—uncertain significance
rs7783558748:30,916,042G/A—uncertain significance
rs5383149358:30,916,045G/C—uncertain significance
rs24872665488:30,916,046T/C—uncertain significance
rs24872665718:30,916,049A/G—uncertain significance
rs21300014138:30,916,050A/G—likely benign
rs11982108488:30,916,051G/T—pathogenic
rs24872666028:30,916,053A/G—likely benign
rs18123626798:30,916,055G/T—uncertain significance
rs24872666478:30,916,057A/G—uncertain significance
rs344778208:30,916,058A/G—conflicting classifications of pathogenicity
rs21300015368:30,916,059G/C—uncertain significance
rs12589538318:30,916,060G/T—likely pathogenic
rs18123632508:30,916,062A/G—uncertain significance
rs7493908628:30,916,063T/C—uncertain significance
rs7708669448:30,916,065T/A—uncertain significance
rs15545181928:30,916,066T/C—likely benign
rs9739978198:30,916,067G/T—likely benign
rs3776561208:30,916,068T/C—likely benign
rs15854017168:30,916,069T/C—likely benign
rs18123639898:30,916,071A/G—likely benign
rs18123640808:30,916,072T/C—likely benign
rs24872668128:30,916,073T/C—likely benign
rs13769749128:30,916,074G/T—likely benign
rs14645165188:30,916,075A/G—likely benign
rs17561090228:30,916,076C/T—likely benign
rs7597130908:30,916,078A/G—likely benign
rs27373168:30,916,085T/C—benign
rs21300045438:30,916,652A/C—likely benign
rs24872690368:30,916,653A/G—uncertain significance
rs24872690438:30,916,655T/C—uncertain significance
rs7510590468:30,916,657A/G—likely benign
rs18123857728:30,916,658C/T—likely benign
rs7546466798:30,916,659T/G—likely benign
rs24872690838:30,916,661A/T—uncertain significance
rs18123859478:30,916,662A/G—uncertain significance
rs13956180778:30,916,663C/G—uncertain significance
rs24872691108:30,916,665C/T—uncertain significance
rs7809886488:30,916,668G/A—likely pathogenic
rs21300046418:30,916,669G/A—uncertain significance

Showing 100 of 2,776 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.